Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain

M Daimon; S Moriai; S Susa; K Yamatani; T Hosoya; T Kato

doi:10.1007/s002340050730

Hypocaeruloplasminaemia with heteroallelic caeruloplasmin gene mutation: MRI of the brain

Neuroradiology. 1999 Mar;41(3):185-7. doi: 10.1007/s002340050730.

Authors

M Daimon¹, S Moriai, S Susa, K Yamatani, T Hosoya, T Kato

Affiliation

¹ Third Department of Internal Medicine, Yamagata University School of Medicine, Japan. mdaimon@med.id.yamagata-u.ac.jp

PMID: 10206163
DOI: 10.1007/s002340050730

Abstract

We present two patients with hypocaeruloplasminaemia and a heteroallelic caeruloplasmin gene mutation (HypoCPGM). These patients had diabetes mellitus and tremor of the hands, respectively. T2-weighted fast spin-echo MRI showed mildly reduced intensity of the putamen, much more marked on echo-planar imaging.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Aged
Ceruloplasmin / deficiency*
Ceruloplasmin / genetics*
Diabetes Mellitus
Echo-Planar Imaging*
Female
Humans
Male
Point Mutation*
Putamen / pathology*
Tremor

Substances

Ceruloplasmin